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Association transient receptor potential melastatin channel gene polymorphism with primary open angle glaucoma
Seydi Okumus1, Seniz Demiryürek, Bülent Gürler
1Department of Ophthalmology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
Genetic variations in the TRPM5 gene may increase primary open angle glaucoma (POAG) risk. This study identified a specific TRPM5 polymorphism associated with POAG in the Turkish population.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Primary open angle glaucoma (POAG) is a leading cause of irreversible blindness.
- Genetic factors are implicated in POAG pathogenesis.
- Transient Receptor Potential Melastatin (TRPM) channels play roles in various physiological processes.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in TRPM channel genes and POAG risk.
- To analyze the impact of specific TRPM gene variations on POAG susceptibility in a Turkish cohort.
Main Methods:
- Genomic DNA was isolated from 179 POAG patients and 182 healthy controls.
- 26 single nucleotide polymorphisms (SNPs) in TRPM channel genes were genotyped using the BioMark HD dynamic array system.
- Genotype and allele frequencies were compared between POAG cases and controls.
Main Results:
- A significant association was observed for the TRPM5 gene rs34551253 (Ala456Thr) polymorphism.
- Allele frequencies for rs34551253 differed significantly between POAG patients (T: 60.1%, C: 39.9%) and controls (T: 48.6%, A: 51.4%).
- No significant associations were found for the other 25 studied TRPM gene polymorphisms.
Conclusions:
- This is the first study to explore TRPM channel gene variations in relation to POAG risk.
- The TRPM5 rs34551253 (Ala456Thr) polymorphism may be a risk factor for developing POAG in the Turkish population.
- Further research is warranted to elucidate the functional role of TRPM5 in glaucoma pathogenesis.
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